Tag: Genetics

A rare disease, also known as an orphan disease, affects by definition less than five in 10,000 (or 0.05%) of the general population.

Hence the question arises: why a disease as rare as 0.05% of the population presents a good investment of research funding? We think the answer is simple and importantly the math adds up. Here are some facts, based on raredisease.org.uk:

7% of the population, will be affected by a rare disease at some point in their lives, which translates to 3.5 million people in the UK

There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in the medical literature each week

80% of rare diseases have a genetic component and are often life-threatening

75% of rare diseases affect children

Drug development and research into rare diseases can also help improve treatment for more common diseases

In 2012, the UK Government initiated the 100,000 Genome Project with a particular focus on rare diseases (and cancer). Knowledge gained from this project is already helping to make new diagnoses, thereby aiding the development of new treatments.

An important milestone for patients with rare diseases was the publication of The UK Strategy for Rare Diseases in 2013 which postulates 51 commitments that have to be implemented by 2020. Ranking very high is the urgent need for getting the correct diagnosis. Around four in every 10 patients say they found it difficult to get a correct diagnosis and find suitable support groups. Clearly, the 100,000 Genome Project is an important step in that direction. In addition, and complementary to this, the National Institute for Health Research (NIHR) has invested considerable funding into understanding the characteristics of patients with rare diseases. Finally, multiple pharmaceutical companies are investing strongly in this area. (more…)

Over the past decade, several institutions in Egypt have been making huge scientific progress that is steadily reaching worldwide recognition. It is under these circumstances that I have been fortunate to join the Magdi Yacoub Foundation (MYF), which is recognised as one of Egypt’s most prominent charity organisations. The Aswan Heart Centre – located along the banks of the Nile in Aswan – is an integral part of MYF, offering state-of-the-art medical services for the underprivileged. It focuses on expanding the research on heart disease across the Middle East and beyond to contribute to the world’s scientific knowledge.

With the rise of precision medicine, an approach that uses clinical, molecular, cellular and genetic information to offer effective personalised treatment to patients, Imperial’s Professor Sir Magdi Yacoub emphasised the need to investigate the genetic architecture of the Egyptian population. Understanding the genetics of the disease in the local population will allow for a more accurate diagnosis, a better understanding of the disease mechanism and could potentially facilitate the development of better treatment.

The focus of my PhD project is to identify the genetic determinants of cardiomyopathy – a term which encompasses different heart diseases that often progress to heart failure. Ultimately, I will try to correlate this genetic information with the clinical phenotype of these patients. This project is a collaboration with Imperial College London under joint supervision by Dr Yasmine Aguib and Professor Sir Magdi Yacoub from MYF-Egypt and Dr Paul Barton and Dr James Ware from Imperial. (more…)

Years later, I remember very little from the lessons – but I do vividly remember the teacher. She was very strict, had hair like candy floss and a severe hunch. She always made the lessons run long, but she would give me a chocolate bar if I helped her hang out her washing afterwards. She needed my help because she couldn’t reach the washing line anymore. One day I asked my mum why she had a hunched back and she told me it was because she had osteoporosis. At the time I didn’t really comprehend what that meant, but I knew it wasn’t good. One day she fell and broke her hip, and sadly, not long after that she passed away. As you read my story, I am sure it sounds familiar to a lot of you. Maybe not with a piano teacher, but with a relative, family friend or neighbour. The reason I say that is due to the rising prevalence of osteoporosis – one in three women and one in five men over the age of 50 are affected. (more…)

For the last 10 years I have been a clinical scientist in genetics working across various London NHS Trusts. Whilst I loved diagnostics, last year I left my job to complete my PhD. I worked in a part of life sciences called cytogenetics. This meant when a patient was diagnosed with blood cancer, I would analyse their chromosomes – the structures into which DNA is organised – from their blood or bone marrow to look for specific abnormalities. For some patients, this can lead to a definitive diagnosis. For others a refined prognosis, and in some, it’s simply a way of monitoring how well the patient’s leukaemia is responding to their treatment.

Histopathology of chronic myeloid leukaemia

Blood cancer can be very straightforward to diagnose and it was perfectly possible to provide genetic confirmation of a blood cancer diagnosis in a matter of hours. For example, in patients with chronic myeloid leukaemia (CML), I would find a particular abnormality called a Philadelphia translocation between chromosomes 9 and 22. Finding this translocation means a patient will benefit from a targeted therapy – called a tyrosine kinase inhibitor (TKI) – which reverses the effect of the translocation with relatively few side effects. TKIs are a tablet taken once or twice a day at home. Compared to chemotherapy, TKIs have revolutionised the treatment and outcomes of CML, which has been life-changing for CML patients. It was always satisfying to call the referring clinician and let them know their patient had a Philadelphia translocation because I knew that would set the wheels in motion for a TKI to be prescribed. Ultimately I knew I had made a difference to a patient on those days. (more…)

Leuka is a charity that supports life-saving research into the causes and treatment of leukaemia and other blood cancers. Funding from dedicated charities such as Leuka provides an important source of support which enables high-quality research programmes here at Imperial to develop and progress. In this post, four Imperial researchers write about the different ways in which Leuka has supported their work at the College.

Dr Nichola Cooper and Dr Andy Porter on lymphocyte mutations

Lymphocytes are immune cells designed to recognise and fight infections, as well as to seek and destroy cancer cells. In order to create the diversity required to recognise and kill all possible infections, lymphocytes undergo an elaborate diversification process involving changes to genes, such as rearrangement, mutation and selection.

Sometimes, diversification can produce lymphocytes that mistake the body’s own cells (self-cells) as invaders. To prevent such lymphocytes from killing self-cells, which would result in the immune system attacking its own healthy tissues (autoimmunity), another elaborate process has evolved that either kills these autoreactive lymphocytes, or keeps them in check through regulation.

Together these diversification and regulatory processes allow lymphocytes to distinguish between harmful infections and the body’s own vital cells, involving many different genes. Defects in these genes, called mutations, can lead to reduced immunity, autoimmunity or uncontrolled reproduction of lymphocytes resulting in cancerous immune cells (lymphoma). (more…)